De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review

American Journal of Medical Genetics, Part A

Volumn 167, Issue 6, 2015, Pages 1381-1385

  Liu, Yi ^a   Zhao, Dongmei ^a   Dong, Rui ^a   Yang, Xiaomeng ^a   Zhang, Yanqing ^a   Tammimies, Kristiina ^b   Uddin, Mohammed ^b   Scherer, Stephen W ^b,c   Gai, Zhongtao ^a  

^a QILU CHILDREN S HOSPITAL OF SHANDONG UNIVERSITY   (China)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

Autism spectrum disorder; Autism susceptibility candidate 2; Developmental delay; Neurodevelopmental disorders

Indexed keywords

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; AUDITORY STEADY STATE RESPONSE TEST; AUTISM; AUTISM ASSESSMENT; AUTS2 GENE; CASE REPORT; CHILD; CHROMOSOME 7Q; CHROMOSOME 7Q11 22; CLANCY AUTISM BEHAVIOR SCALE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DSM-IV; EMOTIONAL DISORDER; EXON; EXON 1; GENE; GENE DELETION; GENE EXPRESSION; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HEARING IMPAIRMENT; HEARING TEST; HUMAN; HYPERACTIVITY; INTRON; INTRON 1; MALE; NUCLEAR LOCALIZATION SIGNAL; PREFRONTAL CORTEX; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SPEECH DELAY; STEREOTYPY; AUTISM SPECTRUM DISORDER; CHROMOSOME 7; DEVELOPMENTAL DISABILITIES; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY;

AUTS2 PROTEIN, HUMAN; PROTEIN;

AUTISM SPECTRUM DISORDER; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 7; DEVELOPMENTAL DISABILITIES; EXONS; GENE EXPRESSION; HAPLOINSUFFICIENCY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PROMOTER REGIONS, GENETIC; PROTEINS; SEQUENCE DELETION;

EID: 84929943707     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37050     Document Type: Article

References (27)

1. Amarillo IE, Li WL, Li X, Vilain E, Kantarci S. 2014. De novo single exon deletion of AUTS2 in a patient with speech and language disorder: A review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders. Am J Med Genet A 164A:958-965.
2. Ameur A, Zaghlool A, Halvardson J, Wetterbom A, Gyllensten U, Cavelier L, Feuk L. 2011. Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain. Nat Stuct Mol Biol 18:1435-1440.
3. Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW. 2008. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 82:165-173.
4. Bedogni F, Hodge RD, Nelson BR, Frederick EA, Shiba N, Daza RA, Hevner RF. 2010. Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology. Gene Expr Patterns 10:9-15.
5. Ben-David E, Granot-Hershkovitz E, Monderer-Rothkoff G, Lerer E, Levi S, Yaari M, Ebstein RP, Yirmiya N, Shifman S. 2011. Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression. Hum Mol Genet 20:3632-3641.
6. Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. 2013. Exonic deletions in AUTS2 cause a syndromic form of intellectural disabiligy and suggest a critical role for the C terminus. Am J Hum Genet 92:210-220.
7. Carter MT, Scherer SW. 2013. Autism spectrum disorder in the genetics clinic: A review. Clin Genet 83:399-407.
8. Eapen V, Crnčec R, Walter A. 2013. Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioral intervention in autism spectrum disorder. Front Hum Neurosci 7:567.
9. Egger G, Roetzer KM, Noor A, Lionel AC, Mahmood H, Schwarzbraun T, Boright O, Mikhailov A, Marshall CR, Windpassinger C, Petek E, Scherer SW, Kaschnitz W, Vincent JB. 2014. Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Neurogenetics 15:117-127.
10. Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D'arcy M, deBerardinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SF, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS. 2010. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 15:637-646.
11. Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE. 2011. Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet 7:e1002334.
12. Huang XL, Zou YS, Maher TA, Newton S, Milunsky JM. 2010. A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism. Am J Med Genet A 152A:2112-2114.
13. Jolley A, Corbett M, McGregor L, Waters W, Brown S, Nicholl J, Yu S. 2013. De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review. Am J Med Genet A 161A:1508-1512.
14. Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann LM, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers HH, Ullmann R. 2007. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet 121:501-509.
15. MacDonald JR, Ziman R, yuen RK, Feuk L, Scherer SW. 2014. The Database of Genomic Variants: A curated collection of structural variation in the human genome. Nucleic Acids Res 42:D986-D992.
16. Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE. 2010. Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6:e1000962.
17. Nagamani SC, Erez A, Ben-Zeev B, Frydman M, Winter S, Zeller R, El-Khechen D, Escobar L, Stankiewicz P, Patel A, Cheung SW. 2013. Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. Eur J Hum Genet 21:343-346.
18. Oksenberg N, Ahituv N. 2013. The role of AUTS2 in neurodevelopment and human evolution. Trends Genet 29:600-608.
19. Oksenberg N, Stevison L, Wall JD, Ahituv N. 2013. Function and regulation of AUTS2, a gene implicated in autism and human evolution. PLoS Genet 9:e1003221.
20. Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW. 2014. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 94:677-694.
21. Scherer SW, Dawson G. 2011. Risk factors for autism: Translating genomic discoveries into diagnositics. Hum Genet 130:123-148.
22. Sultana R, Yu CE, Yu J, Munson J, Chen D, Hua W, Estes A, Cortes F, de la Barra F, Yu D, Haider ST, Trask BJ, Green ED, Raskind WH, Disteche CM, Wijsman E, Dawson G, Storm DR, Schellenberg GD, Villacres EC. 2002. Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics 80:129-134.
23. Sun X, Allison C, Auyeung B, Matthews FE, Zhang Z, Baron-Cohen S, Brayne C. 2014. Comparison between a mandarin Chinese version of the childhood autism spectrum test and the Clancy autism behaviour scale in mainland China. Res Dev Disabil 35:1599-1608.
24. Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. 2012. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell 149:525-537.
25. Uddin M, Tammimies K, Pellecchia G, Alipanahi B, Hu P, Wang Z, Pinto D, Lau L, Nalpathamkalam T, Marshall CR, Blencowe BJ, Frey BJ, Merico D, Yuen RK, Scherer SW. 2014. Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. Nat Genet 46:742-747.
26. Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW. 2013. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell 155:997-1007.
27. Zhang YE, Landback P, Vibranovski MD, Long M. 2011. Accelerated recruitment of new brain development genes into the human genome. PLoS Biol 9:e1001179.